Molecular heterogeneity of beta-thalassemia alleles in Spain and its importance in the diagnosis and prevention of beta-thalassemia major and sickle cell disorders.

In the last 20 years, migratory flows have changed the pattern of beta-thalassemia (beta-thal) mutations in Catalonia and have also increased beta(S) prevalence, either alone or in association with beta-thal alleles. Characterization of the beta gene is needed for genetic counseling for beta-thal major and also for sickle cell diseases. The purpose of this study was to investigate the current distribution pattern of beta-thal mutations.